Abstract
BackgroundMutations in COQ8B (*615567) as a defect of coenzyme Q10 (CoQ10) cause steroid resistant nephrotic syndrome (SRNS).MethodsTo define the clinical course and prognosis of COQ8B nephropathy, we retrospectively assessed the genotype and phenotype in patients with COQ8B mutations from Chinese Children Genetic Kidney Disease Database. We performed the comparing study of renal outcome following CoQ10 treatment and renal transplantation between early genetic detection and delayed genetic detection group.ResultsWe identified 20 (5.8%) patients with biallelic mutations of COQ8B screening for patients with SRNS, non‐nephrotic proteinuria, or chronic kidney disease (CKD) of unknown origin. Patients with COQ8B mutations showed a largely renal‐limited phenotype presenting with proteinuria and/or advanced CKD at the time of diagnosis. Renal biopsy uniformly showed focal segmental glomerulosclerosis. Proteinuria was decreased, whereas the renal function was preserved in five patients following CoQ10 administration combined with angiotensin‐converting enzyme (ACE) inhibitor. The renal survival analysis disclosed a significantly better outcome in early genetic detection group than in delayed genetic detection group (Kaplan–Meier plot and log rank test, p = .037). Seven patients underwent deceased donor renal transplantation without recurrence of proteinuria or graft failure. Blood pressure showed decreased significantly during 6 to 12 months post transplantation.Conclusions COQ8B mutations are one of the most common causes of adolescent‐onset proteinuria and/or CKD of unknown etiology in the Chinese children. Early detection of COQ8B nephropathy following CoQ10 supplementation combined with ACE inhibitor could slow the progression of renal dysfunction. Renal transplantation in patients with COQ8B nephropathy showed no recurrence of proteinuria.
Highlights
Proteinuria can be detected in 5–10% of children by school urine screening[1]
Proteinuria was decreased, whereas the renal function was preserved in five patients following coenzyme Q10 (CoQ10) administration combined with angiotensin-converting enzyme (ACE) inhibitor
Detection of COQ8B nephropathy following CoQ10 supplementation combined with ACEI could slow the progression of renal dysfunction
Summary
Persistent proteinuria was found in 0.1% of them which is an early indication for chronic kidney disease (CKD). Nephrotic Syndrome (NS) manifests with significant proteinuria, hypoalbuminemia, and edema. In contrast to other forms of NS, Steroid-resistant NS (SRNS) does not respond to drug treatment and inevitably progresses to endstage renal failure (ESRD), requiring dialysis or renal transplantation for survival[2]. In SRNS, renal histology reveals focal segmental glomerulosclerosis (FSGS) or diffuse mesangial sclerosis (DMS), which indicate irreversible damage to the glomerulus. Mutations in over 50 genes have been discovered to be monogenic cause of SRNS 3. Recessive mutations in COQ8B (Coenzyme Q8B, or COQ8B) have been added to this list as a novel cause of SRNS 4,5. COQ8B as a defect of coenzyme Q10 (CoQ10) cause steroid resistant nephrotic syndrome (SRNS)
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
